RUNX2, RUNX family transcription factor 2, 860

N. diseases: 405; N. variants: 37
Disease: Osteochondrodysplasias ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.130 GeneticVariation group BEFREE Cleidocranial dysplasia (CCD) is a rare autosomal-dominantly inherited skeletal dysplasia that is predominantly associated with heterozygous mutations of RUNX2. 29943367 2019
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.130 GeneticVariation group BEFREE Heterozygous mutation of RUNX2 can cause cleidocranial dysplasia (CCD), a systemic disease with extensive skeletal dysplasia and abnormality of tooth growth. 27509906 2016
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.130 GeneticVariation group BEFREE Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia due to mutations causing haploinsufficiency of RUNX2, an osteoblast transcription factor specific for bone and cartilage. 20014132 2010
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.130 Biomarker group HPO